PatientID: 1658

KindredID: 1658

Case: Sex Unknown, 60Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CohortInfo: 44 patients with renal cell carcinoma who had known industrial exposure to trichloroethylene (TRI).

CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

CaseHPOFreeText: The patient had TRI exposure at age 22 and was diagnosed with renal cell carcinoma at age 66.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P81S(c.241C>T)

LegacyVariant: p.P81S(c.454C>T)

CaseProblemVariantFreeText: N/A

ClinVarID: 2233 https://www.ncbi.nlm.nih.gov/clinvar/variation/2233/

CAID: N/A

gnomAD: 0.0002179 https://gnomad.broadinstitute.org/variant/3-10183772-C-T

VariantEvidence: The patient had LOH. Assumed germline based on Figure 2.

MutationType: missense_variant;transition

CivicName: P81S(c.241C>T)

MultipleGeneVariants: Somatic, VHL, c.500G>A (p.Arg167Gln)

PatientID: 123

KindredID: 43

Case: M, Age 60Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: The proband (patient 122) had a father who was genetically confirmed with the mutation. The patient's father presented with a CNS hemangioblastoma at 27, renal cell carcinoma at 48, and multiple pancreatic cysts/ tumors at 60.

CasePresentingHPOs: HP:0010797; HP:0001737; HP:0001732; HP:0005584 (Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas, Renal cell carcinoma)

CaseHPOFreeText: The proband's father (patient 123) presented with a CNS hemangioblastoma at age 27, renal cell carcinoma at age 48, and multiple pancreatic cysts/tumors at age 60.

CaseNotHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, Retinal capillary hemangioma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

Variant: p.W117R (c.349T>A)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA351753664; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.349T%3EA

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName: W117R (c.349T>A)

MultipleGeneVariants: N/AcDNAposition:349

PatientID: CII2

KindredID: C

Case: M, 63Y0M, Serbian

DiseaseAssertion: VHL

FamilyInfo: Families were selected based on their clinical data and family history. Patient’s son (CIII1) retinal capillary hemangioma, CNS hemangioblastoma and renal cell carcinoma, but was not genetically tested. The patient’s brother also had retinal capillary hemangioma, CNS hemangioblastoma and renal cell carcinoma, but was not genetically tested. Patient’s grandson (CIV2) was diagnosed with retinal hemangioblastoma at 12Y0M. Then, multiple pancreatic and kidney cysts were detected at 29Y0M and left kidney cancer was found at age 35Y0M. He possessed the same mutation as the patient. The grandson’s children aged 12Y0M (CV2) and 15Y0M (CV1) are carriers of the same genetic mutation, but are both currently asymptomatic. See pedigree in figure 1.

CasePresentingHPOs: HP:0009711; HP:0010797; HP:0005584 (retinal capillary hemangioma; hemangioblastoma; renal cell carcinoma)

CaseHPOFreeText: The patient had the first symptoms of retinal hemangioblastoma at 60Y0M and deceased due to renal cell carcinoma in both kidneys at 63Y0M.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.W88R (c.262T>A)

LegacyVariant: p.W88R (c.475T>A)

CaseProblemVariantFreeText: N/A

ClinVarID: 456577, https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense variant; transversion

CivicName: W88R (c.262T>A)

MultipleGeneVariants: N/A

PatientID: None

KindredID: 4

Case: F, 60Y0M, Ethnicity Unknown

DiseaseAssertion: Clear Cell Renal Cell Carcinoma

FamilyInfo: N/A

CohortInfo: The National Cancer Institute has a frozen tumour bank of ccRCC tumours that have been removed from VHL patients. We selected six patients, three males and three females, with at least five tumours from a single surgery from one kidney.

CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

CaseHPOFreeText: The patient presented with ccRCC at age 60.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.W117C(c.351G>X)

LegacyVariant:N/A

CaseProblemVariantFreeText: This protein change corresponds to both c.351G>C or c.351G>T.

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transversion

CivicName:W117C(c.351G>X)

MultipleGeneVariants: N/A

Supplementary Data Table S3

Case: 201

DiseaseEntity: HCM

HPOsFreeText: left ventricular hypertrophy (LVH) ≥15 mm

InheritancePattern: n/a

CasePreviousTesting: MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1 (59 genes total tested)

CaseGenotypingMethod: NGS of 59 genes (Supplemental Table S1), pathogenic and likely pathogenic variants confirmed via Sanger Sequencing

Variant1: NM_000257.4(MYH7):c.1816G>A (p.Val606Met)

ClinVar: 14091 https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

gnomAD: 0.00001548, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

Variant2: NM_000257.4(MYH7):c.3853+7C>T

ClinVar: 42977 https://www.ncbi.nlm.nih.gov/clinvar/variation/42977/

gnomAD: 0.003956, https://gnomad.broadinstitute.org/variant/14-23888685-G-A

MultipleGeneVariants:

(1) ABCC9 Variant

Variant: NM_005691.3:c.1306G>A (p.Ala436Thr)

CAID: CA6481694 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA6481694

gnomAD: 0.0001608, https://gnomad.broadinstitute.org/variant/12-22063105-C-T

(2) DSP Variant

Variant: NM_004415.2:c.4558A>G (p.Ser1520Gly)

CAID: CA041928 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA041928

gnomAD: 0.00009241, https://gnomad.broadinstitute.org/variant/6-7580981-A-G

(3) MYBPC3 Variant

Variant: NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)

ClinVar: 42813 https://www.ncbi.nlm.nih.gov/clinvar/variation/42813/

gnomAD: 0.01364, https://gnomad.broadinstitute.org/variant/11-47367871-C-T

elective surgical repair is suggested at 5.5 cm in patients without underlying connective tissue disorders, with earlier intervention at 4.5-5.0 cm in patients with connective tissue disorders or bicuspid aortic valve

via u/Koponewt at https://old.reddit.com/r/typewriters/comments/1qbwkp4/need_help_identifying_typewriters/

Water framework directive kaderrichtlijn water

for - stats - solar adoption between June 2024 and 2025 rose 60%

for - from - youtube - Just have a think - A controversial new paper challenges established emissions accounting criteria - https://hyp.is/9AQ6VF2SEfCsW8_68Y6AUA/www.youtube.com/watch?v=Y9f16OTL1Lg - climate crisis - ERF - agriculture 60% - fossil fuels 18% - agriculture is the biggest contributor to carbon emissions summary - This paper uses Effective Radiative Forcing (ERF) as a metric to measure global carbon emissions instead of the traditional Global Warming Potential (GWP) - It points out the problematic nature of GWP and how ERF provides a more accurate picture - Using ERF, the most surprising result of this study is that agriculture is the leading sector causing global warming - Measured from a baseline of emissions since 1750, - agriculture contributes 60% while - fossil fuels contributes 18% - Projects like Project Drawdown already prioritize agriculture, this gives even more validation and priority on transforming the agricultural sector - This also increases importance on efforts in: - regenerative farming - bioreginalism - permaculture - agroforestry - rewilding

for - stats - liberal dated 60 conservative, MAGA men in a year

Tell us more! Who was Alexander Kerensky, and what accomplishments is he known for?

for - stats - earth system boundary - biodiversity - intact natural systems - 50 to 60% global land need to be intact

for - human evolution - loss of tail approximately 25 million years ago - identified genomic mechanism leading to loss of tail and human bipedalism - human ancestors - up to 60 Ma years ago

Nights in White Satin - The Moody Blues - in Paris. Restored video! {YouTube}

site:: [[YouTube]] channel:: Redbaron863 url:: https://www.youtube.com/watch?v=cs4RG9u8IVU accessed:: 2023-12-17 16:30

https://www.youtube.com/watch?v=59cUfik8w2s

enlever les virgules des % sur le 2 ème diagramme stp ? Etablissements scolaires 11 % Autres partenaires 13 % Collectivités 9 % Syndic de rivières 8 % Agence de l'eau 30 % CR et ARS 11 % Fonds européens 1 % OFB 6 % Autres ressources 11 %

Kozlov, Max. ‘COVID-Vaccine Booster Shot Shows Promise in Israeli Study’. Nature, 16 September 2021. https://doi.org/10.1038/d41586-021-02516-4.

Eminem on rhyming orange: "I put my orange, 4-inch door hinge in storage and ate porridge with George." #

Eminem shows Anderson Cooper his form of commonplace book in a 60 Minutes interview.

Instead of calling it "commonplacing", he uses the phrase "stacking ammo".

Cooper analogizes the collection as the scrawlings of a crazy person. In some sense, this may be because there is no order or indexing system with what otherwise looks like a box of random pages.

<small><cite class='h-cite via'>ᔥ <span class='p-author h-card'>u/sorrybabyxo</span> in Eminem has his own version of commonplace system containing words that rhyme. : commonplacebook (<time class='dt-published'>08/10/2021 09:45:39</time>)</cite></small>

AssayResult: 5.1

AssayResultAssertion: Normal

StandardErrorMean: 1

HGVS: NM_024675.3:c.3296C>G p.(Thr1099Arg)

AssayResult: 98.64

AssayResultAssertion: Not reported

ReplicateCount: 2

StandardErrorMean: 5.5

Comment: Exact values reported in “Source Data” file.

AssayResult: 81.81

AssayResultAssertion: Not reported

ReplicateCount: 2

StandardDeviation: 7.45

StandardErrorMean: 5.27

Comment: Exact values reported in “Source Data” file.

HGVS: NM_024675.3:c.3539T>C p.(I1180T)

AssayResult: 59.7

AssayResultAssertion: Indeterminate

ReplicateCount: 41

StandardErrorMean: 6.3

Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)

HGVS: NM_198056.2:c.4382C>G p.(Thr1461Ser)

the Guardian. ‘Shield Some and Let Others Carry on? This Covid Theory Is Dangerous, and Foolish | Charlotte Summers’, 29 December 2020. http://www.theguardian.com/commentisfree/2020/dec/29/covid-theory-dangerous-health.

§§.58, 59, and 60 of the Constitution Act, 1867.

IF you look at the stresses the shear stresses gets bigger to 45 degrees then gets smaller after 45 degrees. So why doesn't it follow the angle with seemingly the most stress. See Page: Why 30 degrees instead of 45 degrees Fracture Angle with sigma 1 Nature wants the minimum normal stress possible with the maximum shear stress possible and at 45 degrees we aren't in that sweet spot were the normal stress is as relatively small as possible and the shear spot is as relatively high as can been and this is at about 60 degrees this is why the faults will crack in the same orientation in nature.

The articles obtained to review Trick Your Brain into Thrift by Paying with Cash by Crack Articles is a theory that can be held at both ends. The articles provided have several brushed details of numerous researches that have been done that links the psychological human being into using credits card. Vis versa there is not much details on how to make, trick, or psychologically change one’s mind into purchasing with cash. The psychological research lead to how one views cash and a credit card or how the individual’s emotions are effected by their economic stand point when making purchases. The types of sources influence by the credit card companies to encouraging the public into using their credit card are endless, but the top mechanism used today is earning money back while spending. A real soother to human ear, when one does not like to see cash disappear from their wallet. Acknowledging, the basis of the title that Cracked Article uses is clearly avoiding using cash. The title shouldn’t be Trick Your Brain into Thrift by Paying with Cash, but the Tricks Your Brain Uses to Have You Pay with Credit Cards or When Not to Shop to Be Thrift.